Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation

Author:

Ramos Mejía Rosario1ORCID,Aza-Carmona Miriam234,del Pino Mariana1,Heath Karen E.234,Fano Virginia1,Obregon Maria Gabriela5

Affiliation:

1. Department of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina

2. Institute of Medical and Molecular Genetics (INGEMM), Madrid, Spain

3. Skeletal dysplasia multidisciplinary Unit (UMDE), Hospital Universitario la Paz, UAM, IdiPAZ, Madrid, Spain

4. CIBERER, ISCIII, Madrid, Spain

5. Department of Genetics, Hospital Garrahan, Buenos Aires, Argentina

Abstract

AbstractHypochondroplasia (HCH), a skeletal dysplasia caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, is characterized by disproportionate short stature. The p.Asn540Lys (p.N540K) mutation accounts for ∼50 to 70% of cases of HCH, but novel FGFR3 mutations are described. We present a family with disproportionately short stature and mild radiologic findings seen in a major public pediatric hospital in Argentina. A previously undescribed heterozygous missense variant in FGFR3, NM_000142.4:667C > T; p.(Arg223Cys) was identified. The predicted phenotype correlates well with the mild auxologic and radiologic characteristics observed. In this case, disproportionately short stature raised the suspicion of skeletal dysplasia.

Publisher

Georg Thieme Verlag KG

Subject

Genetics(clinical),Pediatrics, Perinatology, and Child Health

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